Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs797045036
rs797045036
G 0.800 GeneticVariation CLINVAR Molecular diagnostic experience of whole-exome sequencing in adult patients. 26633545

2016

dbSNP: rs797045036
rs797045036
0.800 GeneticVariation UNIPROT

dbSNP: rs797045036
rs797045036
G 0.800 CausalMutation CLINVAR

dbSNP: rs121918368
rs121918368
A 0.700 CausalMutation CLINVAR